MCID: PYR016
MIFTS: 39

Pyridoxine Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Pyridoxine Deficiency

MalaCards integrated aliases for Pyridoxine Deficiency:

Name: Pyridoxine Deficiency 54 56 74
Vitamin B6 Deficiency 54 56
Vitamin Deficiency, B6 54
Vitamin B 6 Deficiency 74

Classifications:



External Ids:

ICD10 34 E53.1

Summaries for Pyridoxine Deficiency

MalaCards based summary : Pyridoxine Deficiency, also known as vitamin b6 deficiency, is related to liver disease and kwashiorkor. An important gene associated with Pyridoxine Deficiency is CBS (Cystathionine-Beta-Synthase), and among its related pathways/superpathways are One carbon pool by folate and Selenium Micronutrient Network. The drugs Methionine and Serine have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 Vitamin B6 refers to a group of chemically similar compounds which can be interconverted in biological... more...

Related Diseases for Pyridoxine Deficiency

Diseases related to Pyridoxine Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 liver disease 29.7 GPT SLC17A5
2 kwashiorkor 29.7 GPT SLC17A5
3 alcohol abuse 29.5 GPT SLC17A5
4 pyridoxine deficiency anemia 12.4
5 pyridoxamine 5-prime-phosphate oxidase deficiency 11.2
6 neuropathy 10.2
7 uremia 10.1
8 porphyria 10.1
9 tinea unguium 10.0 CBS GPT
10 deficiency anemia 10.0
11 leukemia 10.0
12 status epilepticus 10.0
13 arteriosclerosis 10.0
14 peripheral nervous system disease 10.0
15 lymphosarcoma 10.0
16 audiogenic seizures 10.0
17 bladder cancer 9.9
18 carpal tunnel syndrome 9.9
19 rheumatoid arthritis 9.9
20 hyperprolinemia, type ii 9.9
21 asplenia, isolated congenital 9.9
22 aging 9.9
23 homocysteinemia 9.9
24 sickle cell anemia 9.9
25 mononeuropathy of the median nerve, mild 9.9
26 arthritis 9.9
27 common variable immunodeficiency 9.9
28 crohn's disease 9.9
29 lymphoid leukemia 9.9
30 atrial fibrillation 9.9
31 omphalocele 9.9
32 nephrotic syndrome 9.9
33 nephrocalcinosis 9.9
34 urogenital tuberculosis 9.9
35 dental caries 9.9
36 macrocytic anemia 9.9
37 angular blepharoconjunctivitis 9.9
38 blepharoconjunctivitis 9.9
39 axonal neuropathy 9.9
40 pellagra 9.9
41 sideroblastic anemia 9.9
42 meningitis 9.9
43 hyperprolinemia 9.9
44 seizure disorder 9.9
45 paraquat poisoning 9.9 GPT SLC17A5
46 infantile liver failure syndrome 1 9.9 GPT SLC17A5
47 nonalcoholic steatohepatitis 9.9 GPT SLC17A5
48 hepatitis 9.9 GPT SLC17A5
49 fascioliasis 9.9 GPT SLC17A5
50 fatty liver disease, nonalcoholic 1 9.8 GPT SLC17A5

Graphical network of the top 20 diseases related to Pyridoxine Deficiency:



Diseases related to Pyridoxine Deficiency

Symptoms & Phenotypes for Pyridoxine Deficiency

GenomeRNAi Phenotypes related to Pyridoxine Deficiency according to GeneCards Suite gene sharing:

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 SLC17A5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.5 SLC17A5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.5 SLC17A5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.5 GSR SLC17A5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.5 SLC17A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.5 GSR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.5 GSR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 SLC17A5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.5 GSR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.5 SLC17A5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.5 GSR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.5 SLC17A5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.5 GSR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.5 GSR

Drugs & Therapeutics for Pyridoxine Deficiency

Drugs for Pyridoxine Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methionine Approved, Nutraceutical Phase 2, Phase 3,Not Applicable 63-68-3 6137
2
Serine Approved, Nutraceutical Phase 2, Phase 3,Not Applicable 56-45-1 5951
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Not Applicable 65-23-6 1054
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Not Applicable 59-30-3 6037
5 Contraceptive Agents Phase 2, Phase 3
6 Nutrients Phase 2, Phase 3,Not Applicable
7 Vitamin B Complex Phase 2, Phase 3,Not Applicable
8 Contraceptives, Oral Phase 2, Phase 3
9 Trace Elements Phase 2, Phase 3,Not Applicable
10 Vitamins Phase 2, Phase 3,Not Applicable
11 Micronutrients Phase 2, Phase 3,Not Applicable
12 Vitamin B9 Phase 2, Phase 3,Not Applicable
13 Folate Phase 2, Phase 3,Not Applicable
14 Contraceptives, Oral, Combined Phase 2, Phase 3
15 Vitamin B 6 Phase 2, Phase 3,Not Applicable
16 leucine Phase 2, Phase 3,Not Applicable
17
Pyridoxal Experimental, Nutraceutical Phase 2, Phase 3,Not Applicable 66-72-8 1050
18
leucovorin Approved Not Applicable 58-05-9 6006 143
19
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 15589840
20
Glycine Approved, Nutraceutical, Vet_approved Not Applicable 56-40-6 750
21
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
22
Cobalamin Experimental Not Applicable 13408-78-1 6857388
23 Neurotransmitter Agents Not Applicable
24 Vitamin B12 Not Applicable
25 Vitamin B 12 Not Applicable
26 Hematinics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin B6 Effects for Women Taking Birth Control Pills Completed NCT01128244 Phase 2, Phase 3
2 Vitamin B6 Dependence of One-Carbon Metabolism Completed NCT00877812 Not Applicable
3 The Vitamin B Status in Type 2 Diabetes (VITA) Study Completed NCT03447275
4 Natural Versus Synthetic Vitamin B Complexes in Human Completed NCT03444155 Not Applicable

Search NIH Clinical Center for Pyridoxine Deficiency

Genetic Tests for Pyridoxine Deficiency

Anatomical Context for Pyridoxine Deficiency

MalaCards organs/tissues related to Pyridoxine Deficiency:

42
Brain, Kidney, Heart, Skin, Liver, Bone, Testes

Publications for Pyridoxine Deficiency

Articles related to Pyridoxine Deficiency:

(show top 50) (show all 418)
# Title Authors Year
1
Accumulation of Liver Lipids Induced by Vitamin B6 Deficiency Was Effectively Ameliorated by Choline and, to a Lesser Extent, Betaine. ( 30814419 )
2019
2
Vitamin, B6 (Pyridoxine), Deficiency ( 29261855 )
2017
3
Dietary pyridoxine deficiency reduced growth performance and impaired intestinal immune function associated with TOR and NF-I_B signalling of young grass carp (Ctenopharyngodon idella). ( 28951222 )
2017
4
Pyridoxine Deficiency After Solid Organ Transplant. ( 29187089 )
2017
5
Effects of Vitamin B6 Deficiency on the Composition and Functional Potential of T Cell Populations. ( 28367454 )
2017
6
Choline and betaine ameliorate liver lipid accumulation induced by vitamin B6 deficiency in rats. ( 27696964 )
2017
7
Pyridoxine deficiency in adult patients with status epilepticus. ( 26418265 )
2015
8
Seizures Related to Vitamin B6 Deficiency in Adults. ( 26157671 )
2015
9
Sphingosine 1-phosphate lyase inhibition by 2-acetyl-4-(tetrahydroxybutyl)imidazole (THI) under conditions of vitamin B6 deficiency. ( 25381637 )
2015
10
Anemia attributed to vitamin B6 deficiency in post-pancreaticoduodenectomy patients. ( 25543166 )
2015
11
Effects of maternal vitamin B6 deficiency and over-supplementation on DNA damage and oxidative stress in rat dams and their offspring. ( 25818462 )
2015
12
Ginkgotoxin Induced Seizure Caused by Vitamin B6 Deficiency. ( 26819944 )
2015
13
Revisiting the evidence for neuropathy caused by pyridoxine deficiency and excess. ( 25137514 )
2014
14
Seizures caused by pyridoxine (vitamin B6) deficiency in adults: A case report and literature review. ( 25343127 )
2014
15
Refractory epileptic seizures due to vitamin B6 deficiency in a patient with Parkinson's disease under duodopa® therapy. ( 22798026 )
2013
16
Vitamin B6 deficiency and diseases in elderly people--a study in nursing homes. ( 23394203 )
2013
17
High incidence of lipid deposition in the liver of rats fed a diet supplemented with branched-chain amino acids under vitamin B6 deficiency. ( 23535543 )
2013
18
Vitamin B6: deficiency diseases and methods of analysis. ( 24035968 )
2013
19
Vitamin B6 deficiency, genome instability and cancer. ( 23317180 )
2012
20
Vitamin B6 deficiency: a potential cause of refractory seizures in adults. ( 21378258 )
2011
21
Vitamin B6 deficiency and anemia in pregnancy. ( 19920848 )
2010
22
The effects of pyridoxine deficiency and supplementation on hematological profiles, lymphocyte function, and hepatic cytochrome P450 in B6C3F1 mice. ( 19637937 )
2009
23
Vitamin B6 deficiency alters tissue iron concentrations in the Wistar rat. ( 19203716 )
2009
24
Epileptic status refractory to conventional treatment caused by vitamin B6 deficiency. ( 19240731 )
2009
25
Vitamin B6 deficiency presenting with low alanine aminotransferase in a critically ill child. ( 19674376 )
2009
26
Impairments in pyridoxine-dependent sulphur amino acid metabolism are highly sensitive to the degree of vitamin B6 deficiency and repletion in the pig. ( 22444769 )
2009
27
An assay for uracil in human DNA at baseline: effect of marginal vitamin B6 deficiency. ( 17963712 )
2008
28
Vitamin B6 deficiency can reduce fuel storage and utilization in physically trained rats. ( 18791974 )
2008
29
Vitamin B6 deficiency augments endogenous oxalogenesis after intravenous L-hydroxyproline loading in rats. ( 17200872 )
2007
30
Liver-specific increase of UTP and UDP-sugar concentrations in rats induced by dietary vitamin B6-deficiency and its relation to complex N-glycan structures of liver membrane-proteins. ( 17577663 )
2007
31
Vitamin B6 deficiency and dietary fats: effects on lipid composition and glutathione peroxidase activity in rat liver. ( 16691019 )
2006
32
Effect of vitamin B6 deficiency on glyoxylate metabolism in rats with or without glyoxylate overload. ( 16847354 )
2006
33
Effect of vitamin B6 deficiency on S-adenosylhomocysteine hydrolase activity as a target point for methionine metabolic regulation. ( 17190099 )
2006
34
Effect of pyridoxine deficiency on the structural and functional development of hippocampus. ( 15648402 )
2004
35
Confusion associated with isoniazid-induced pyridoxine deficiency. ( 15546832 )
2004
36
Hyperhomocysteinemia and vitamin B6 deficiency: new risk markers for nonvalvular atrial fibrillation? ( 15389232 )
2004
37
Electrocardiographic changes due to pyridoxine deficiency. ( 12765460 )
2003
38
Renal calcium phosphate and oxalate deposition in prolonged vitamin B6 deficiency: studies on a rat model of urolithiasis. ( 11942967 )
2002
39
Effect of vitamin B6 deficiency on the synthesis and accumulation of S-adenosylhomocysteine and S-adenosylmethionine in rat tissues. ( 11575573 )
2001
40
Vitamin B6 deficiency in elderly patients on chronic peritoneal dialysis. ( 11045317 )
2000
41
Perturbations in factors that modulate osteoblast functions in vitamin B6 deficiency. ( 11100939 )
2000
42
High performance liquid chromatography method for the determination of pyridoxal-5-phosphate in human plasma: how appropriate are cut-off values for vitamin B6 deficiency? ( 10403580 )
1999
43
Influence of dietary n-3 polyunsaturated fatty acids on plasma lipemic effect of vitamin B6 deficiency. ( 10526775 )
1999
44
Vitamin B6 deficiency decreases the glucose utilization in cognitive brain structures of rats. ( 15539332 )
1999
45
Plasma pyridoxine deficiency is related to increased psychological distress in recently bereaved homosexual men. ( 9625217 )
1998
46
A cartilage matrix deficiency experimentally induced by vitamin B6 deficiency. ( 9421212 )
1998
47
Effects of vitamin B6 deficiency on cytokine levels and lymphocytes in mice. ( 9648235 )
1998
48
Vitamin B6 deficiency may also be important. ( 9836732 )
1998
49
Vitamin B6 deficiency affects antioxidant defences in rat liver and heart. ( 9844729 )
1998
50
Dual influence of aging and vitamin B6 deficiency on delta-6-desaturation of essential fatty acids in rat liver microsomes. ( 10189072 )
1998

Variations for Pyridoxine Deficiency

Expression for Pyridoxine Deficiency

Search GEO for disease gene expression data for Pyridoxine Deficiency.

Pathways for Pyridoxine Deficiency

GO Terms for Pyridoxine Deficiency

Biological processes related to Pyridoxine Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.16 CBS GPT
2 L-serine metabolic process GO:0006563 8.96 CBS SHMT2
3 L-serine catabolic process GO:0006565 8.62 CBS SHMT2

Molecular functions related to Pyridoxine Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 8.8 CBS GPT SHMT2

Sources for Pyridoxine Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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